Postmenarchal development of chylous ascites in acrocephalosyndactyly withcongenital lymphatic dysplasia

Background: Acrocephalosyndactyly is a syndrome characterized by congenital malformation of the skull with craniosynostosis, midface hypoplasia, and s ymmetrical webbed fusion of the fingers and toes. We describe a possible pa thophysiologic mechanism for chylous ascites that developed several months after menarche in a woman with acrocephalosyndactyly and congenital lymphat ic dysplasia. Case: A 25-year-old nulligravid woman with acrocephalosyndactyly, at 18 mon ths after menarche, developed persistent abdominal distension at age 18 yea rs. Laparoscopy at age 25 years revealed chylous ascites with marked chroni c peritoneal inflammation, and lymphatic dysplasia with lymphocysts. With h ormone manipulation, the chylous ascites fluctuated. Conclusion: After menarche in a woman with acrocephalosyndactyly, ovarian s teroid hormones might have increased lymph production and hydrostatic press ure, causing rupture of congenitally dysplastic lymph vessels resulting in chylous ascites. (C) 2001 by The American College of Obstetricians and Gyne cologists.